Table 1. Summary of the reported patients with Gaucheroma including the proposita ( n = 24) .
| Type 1 | Type 3 | Unknown | |||
|---|---|---|---|---|---|
| 1. Gaucher's disease | 6 (25%) | 15 (63%) | 3 (12%) | Total 24 | |
| Yes | No | Unknown | |||
| 2. Enzyme replacement therapy a | 22 (92%) | 0 (0%) | 2 (8%) | ||
| Mesenteric | Mediastinal | Liver | Cervical/axial LN | Osseous/soft tissue | |
| 3. Primary site of Gaucheroma b | 17 (71%) | 7 (29%) | 3 (13%) | 3 (13%) | 4 (17%) |
| ≦ 5 y | 5 < – ≦ 10 y | 10 y < | Unknown | ||
| 4. Age at diagnosis of Gaucheroma | 13 (54%) | 5 (21%) | 5 (21%) | 1 (4%) | |
| L444P | R359Q | K79N | N370S | Unknown | |
| 5. Genotype of GBA c | 29 (60%) | 4 (8%) | 1 (2%) | 1 (2%) | 13 (28%) |
Abbreviation: LN, lymph nodes.
a
All patients except one received 60 IU/kg/2 weeks. One patient received 100 IU/kg/2 weeks for 10 years and combination therapy with miglustat for 4 years until the diagnosis of Gaucheroma was made. Dose unknown for four patients before the diagnosis of Gaucheroma.
b
Some patients had multiple primary sites at diagnosis.
c
Percentage is calculated based on the total 48 haploids ( n = 24).